neuromuscular diseases Flashcards
main presentations of neuromuscular diseases
- floppy infant
- delayed walking
- frequent falls
- fatigue
- diplopia
- feeding difficulties
- respiratory difficulties
- cardiac difficulties
- cramps
- pain
- rash
functional appearances of neuromuscular disease
- weakness
- sensory
- autonomic
anatomical appearances of neuromuscular disease
- arms
- legs
- cranial
- proximal
- distal
- symmetrical
- asymmetrical
temporal appearances of neuromuscular disease
- acute
- chronic
- episodic
- hereditary
- fatigue
- age of onset
general assessment for neuromuscular diseases
- creatine kinase levels
- electrodiagnostic
- genetic testing
- muscle biopsy
- ultrasound
- MRI
types of neuromuscular diseases
- friedrich’s ataxia
- spinal muscular atrophy
- guillian barre syndrome
- charcot-marie-tooth disease
- myasthenia gravis
- congential myasthenic syndromes
- cri-du-chat syndrome
- congenital myopathies
- congenital muscular dystrophies
- merosin negative muscular dystrophy LAMA2
- bethlem/ullrich collagen VI CMD
- myotonic dystrophy
- duchenne muscular dystrophy
where is the breakdown causing friedrich’s ataxia
sensory nerve root, dorsal root ganglion
where is the breakdown causing spinal muscular atrophy
motor neuron
where is the breakdown causing guillian barre syndrome
peripheral nerve
where is the breakdown causing myasthenia
NMJ
where is the breakdown causing botulism
NMJ
where is the breakdown causing duchenne muscular dystrophy
myopathic: muscle
where is the breakdown causing congenital muscular dystrophy
myopathic: muscle
where is the breakdown causing myotonic dystrophy
myopathic: muscle
where is the breakdown causing congential myopathies
myopathic: muscle
what does creatine kinase measure, what does an elevated measure mean?
- the enzymes level in all muscles
- elevated indicates poor sarcolemma indicates DMD
neuromuscular disorders affect ? system
PNS
where does FRDA happen
- spinal cord
- dorsal root ganglia
where does SMA happen
motor neurons
where does GBS happen
nerve level
where does HMSN happen
nerve level
where does MG happen
NMJ
where does infantile botulism happen
NMJ
where do congenital myasthenic syndromes happen
NMJ
where does DMD happen
muscle level
where does BMD happen
muscle level
where does cogenital MD happen
muscle level
where do myotonic dystrophies happen
muscle level
where do congential myopathies happen
muscle level
